Chitayat, David A.

Top Publications

Top Publications Authored or Co-Authored by "Chitayat, David A."

• Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

  American Journal of Medical Genetics, Part A, Volume 167, No. 2, Year 2015, Citations 449
• Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux

  American Journal of Human Genetics, Volume 75, No. 1, Year 2004, Citations 333
• Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

  Nature Genetics, Volume 44, No. 3, Year 2012, Citations 246
• Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

  Nature Genetics, Volume 44, No. 5, Year 2012, Citations 159
• Mutations in KEOPS-complex genes cause nephritic syndrome with primary microcephaly

  Nature Genetics, Volume 49, No. 10, Year 2017, Citations 146